Resources for Scientists

Background

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disease, with a wide range of clinical phenotypes and an association with mutations in at least nine known genes (ACTA1, NEB, TPM3, TPM2,TNNT1, CFL2, KBTBD13, KLHL40, and KLHL41).
NEB gene mutations account for 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent of all cases.

Resources Available

A Foundation Building Strength has provided significant funding for and has connections to multiple NM experts.  Through their research, available resources include numerous publications as well as murine models with phenotypes typical of moderate human disease.

Tissue Repository

A Foundation Building Strength provides financial support to the Congenital Muscle Disease Tissue Repository.  Specimens may be made available by request.

Learn more at the CMD Tissue Repository Site

Getting in Touch and Submitting Proposals

We encourage you to contact us with your grant applications.  We will gladly provide documentation on the proposal process and a prompt review.

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